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Links from MedGen

Items: 1 to 100 of 622

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCN2
Duplication
Transcobalamin II deficiency
GUncertain significance
TCN2
Deletion
Transcobalamin II deficiency
GPathogenic
TCN2
Deletion
Transcobalamin II deficiency
GPathogenic
TCN2
Deletion
Transcobalamin II deficiency
GPathogenic
TCN2
Deletion
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
LOC121853040, TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant +1 more)
Transcobalamin II deficiency
GLikely benign
LOC121853040, TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Duplication
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Microsatellite
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(Q345* +1 more)
Single nucleotide variant
(nonsense)
Transcobalamin II deficiency
GPathogenic
LOC121853040, TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Microsatellite
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(Y108*)
Single nucleotide variant
(nonsense)
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(Q129* +1 more)
Single nucleotide variant
(nonsense)
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(V171I +1 more)
Single nucleotide variant
(missense variant)
Transcobalamin II deficiency
GUncertain significance
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Deletion
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
LOC121853040, TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Deletion
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(splice acceptor variant)
Transcobalamin II deficiency
GLikely pathogenic
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
LOC121853040, TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(F118fs)
Insertion
(frameshift variant +1 more)
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
LOC121853040, TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(L45fs)
Deletion
(frameshift variant)
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Duplication
(intron variant)
Transcobalamin II deficiency
GUncertain significance
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
TCN2
(Y155fs +1 more)
Duplication
(frameshift variant)
Transcobalamin II deficiency
GPathogenic
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(synonymous variant)
Transcobalamin II deficiency
GLikely benign
TCN2
Single nucleotide variant
(intron variant)
Transcobalamin II deficiency
GLikely benign
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